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DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]
DHX16 (DEAH-Box Helicase 16) is a Protein Coding gene. Diseases associated with DHX16 include Neuromuscular Disease And Ocular Or Auditory Anomalies With Or Without Seizures and Corpus Callosum, Agenesis Of. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IBA | 21873635 |
GO:0003724 | RNA helicase activity | TAS,IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IBA | 21873635 |
GO:0005634 | nucleus | TAS,IDA | 20423332 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005681 | spliceosomal complex | IBA,IDA | 25296192 |
GO:0071005 | U2-type precatalytic spliceosome | IDA | 29360106 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | TAS | 9547260 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DHX16 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DHX16 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DHX16 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DHX16 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dhx16 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dhx16 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | DHX16 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.3751 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.18519 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dhx16 30 31 |
|
OneToOne | |
wufa91b12 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)37Cb 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009093 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | mog-4 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRP43 31 |
|
OneToMany | |
PRP2 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ESP3 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.9177 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0389800 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.25604 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cdc28 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08928 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3838 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691931 | Pathogenic/Likely Pathogenic: Intellectual disability; Seizures; Corpus callosum, agenesis of; Periventricular gray matter heterotopia; Chorioretinal lacunae; Neurodevelopmental delay; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES | 30,660,043(-) | A/T | MISSENSE_VARIANT | |
691932 | Pathogenic/Likely Pathogenic: Enlarged kidney; Multiple renal cysts; Reduced renal corticomedullary differentiation; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES | 30,657,009(-) | C/A | MISSENSE_VARIANT | |
691933 | Pathogenic/Likely Pathogenic: Intellectual disability; Neurodevelopmental delay; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES | 30,664,838(-) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
691934 | Pathogenic/Likely Pathogenic: Intellectual disability; Seizures; Neurodevelopmental delay; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES | 30,657,079(-) | G/A | MISSENSE_VARIANT | |
711864 | Benign: not provided | 30,654,817(-) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2670269 | CNV | deletion | 23128226 |
esv2731791 | CNV | deletion | 23290073 |
esv3411275 | CNV | duplication | 20981092 |
nsv1074389 | CNV | deletion | 25765185 |
nsv1122126 | CNV | deletion | 24896259 |
nsv1144137 | CNV | deletion | 24896259 |
nsv601264 | CNV | loss | 21841781 |
nsv601481 | CNV | loss | 21841781 |
nsv823472 | CNV | gain | 20364138 |
nsv830626 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuromuscular disease and ocular or auditory anomalies with or without seizures |
|
|
corpus callosum, agenesis of |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
visual epilepsy |
|
|
basilar artery occlusion |
|
|